Canonical Allele Identifier: CA2320965052

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7533201_7533202delinsTC , CM000681.2:g.7533201_7533202delinsTC	GRCh38
NC_000019.9:g.7598087_7598088delinsTC , CM000681.1:g.7598087_7598088delinsTC	GRCh37
NC_000019.8:g.7504087_7504088delinsTC	NCBI36
NG_013374.1:g.4050_4051delinsTC
NG_015806.1:g.15592_15593delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.1576-322_1576-321delinsTC MANE Select	ENSP00000264079.5:n.1576-322_1576-321delinsTC
ENST00000264079.10:c.1576-322_1576-321delinsTC	ENSP00000264079.5:n.1576-322_1576-321delinsTC
ENST00000394321.9:n.1891-322_1891-321delinsTC
ENST00000599334.1:c.304-322_304-321delinsTC
NM_020533.2:c.1576-322_1576-321delinsTC	NP_065394.1:n.1576-322_1576-321delinsTC
NM_020533.3:c.1576-322_1576-321delinsTC MANE Select	NP_065394.1:n.1576-322_1576-321delinsTC